Canonical Allele Identifier: CA10603380

Gene: SNAP29 PI4KA

Linked Data

• ClinVar Variation Id: 279894
• ClinVar RCV Id: RCV000280099 ; RCV000454300 ; RCV002251740
• dbSNP Id: rs886041240
• gnomAD v2: 22-21213400-T-C
• gnomAD v3: 22-20859112-T-C
• gnomAD v4: 22-20859112-T-C
• MyVariant Identifiers: chr22:g.21213400T>C (hg19) ; chr22:g.20859112T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.20859112T>C , CM000684.2:g.20859112T>C	GRCh38
NC_000022.10:g.21213400T>C , CM000684.1:g.21213400T>C	GRCh37
NC_000022.9:g.19543400T>C	NCBI36
NG_012152.1:g.5109T>C
NG_033052.1:g.4701A>G
NG_033052.2:g.4701A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215730.12:c.2T>C (SNAP29) MANE Select	ENSP00000215730.6:p.Met1Thr
ENST00000215730.11:c.2T>C (SNAP29)	ENSP00000215730.6:p.Met1Thr
ENST00000449120.1:c.-19+11A>G (PI4KA)	ENSP00000402437.1:n.-19+11A>G
ENST00000490458.1:n.32T>C (SNAP29)
NM_004782.3:c.2T>C (SNAP29)	NP_004773.1:p.Met1Thr
NM_004782.4:c.2T>C (SNAP29) MANE Select	NP_004773.1:p.Met1Thr